Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_153332.4
p.L16P
c.47T>C
NM_153332.4
p.K118*
c.352A>T
NM_153332.4
p.Q172*
c.514C>T
NM_153332.4
p.Q244*
c.730C>T
NM_153332.4
p.I305L
c.913A>C
NM_153332.4
p.I305L
c.913A>T
NM_153332.4
p.*350fs
c.1048_1049fs
NM_153332.4
p.A15delFs
c.43delG
NM_153332.4
p.A15T
c.43G>A
NM_153332.4
p.S21*
c.62C>A
NM_153332.4
p.T72T
c.216G>A
NM_153332.4
p.M79I
c.237G>A